Canonical Allele Identifier: CA1948239682

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570682_2570683delinsGC , CM000673.2:g.2570682_2570683delinsGC	GRCh38
NC_000011.9:g.2591912_2591913delinsGC , CM000673.1:g.2591912_2591913delinsGC	GRCh37
NC_000011.8:g.2548488_2548489delinsGC	NCBI36
NG_008935.1:g.130692_130693delinsGC , LRG_287:g.130692_130693delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.271_272delinsGC	ENSP00000434560.2:p.Ala91=
ENST00000646564.2:c.478-12753_478-12752delinsGC	ENSP00000495806.2:n.478-12753_478-12752delinsGC
ENST00000155840.12:c.532_533delinsGC MANE Select	ENSP00000155840.2:p.Ala178=
ENST00000335475.6:c.151_152delinsGC	ENSP00000334497.5:p.Ala51=
ENST00000646564.1:c.124-12753_124-12752delinsGC	ENSP00000495806.1:n.124-12753_124-12752delinsGC
ENST00000155840.9:c.532_533delinsGC	ENSP00000155840.2:p.Ala178=
ENST00000335475.5:c.151_152delinsGC	ENSP00000334497.5:p.Ala51=
ENST00000496887.6:c.271_272delinsGC	ENSP00000434560.1:p.Ala91=
NM_000218.2:c.532_533delinsGC , LRG_287t1:c.532_533delinsGC	NP_000209.2:p.Ala178=
NM_181798.1:c.151_152delinsGC , LRG_287t2:c.151_152delinsGC	NP_861463.1:p.Ala51=
NM_000218.3:c.532_533delinsGC MANE Select	NP_000209.2:p.Ala178=